Leigh syndrome caused by the MT-ND5 M.13513G>A mutation: A case presenting with WPW-like conduction defect, cardiomyopathy, hypertension and hyponatraemia

Marcus Brecht, Malcolm Richardson, Ajay Taranath, Scott Grist, David Thorburn, Drago Bratkovic

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

14 Citations (Scopus)

Abstract

Mitochondrial disease can present with a wide range of clinical phenotypes, and knowledge of the clinical spectrum of mitochondrial DNA mutation is constantly expanding. Leigh syndrome (LS) has been reported to be caused by the m.13513G>A mutation in the ND5 subunit of complex I (MT-ND5 m.13513G>A). We present a case of a 12-month-old infant initially diagnosed with tachyarrhythmia requiring defibrillation, subsequent presentation with hypertension and hyponatraemia secondary to renal salt loss and presumed inappropriate ADH secretion. Complex I activity in the muscle tissue was 54%, and mutation load in the muscle and lymphocytes was 50%. This case of Leigh syndrome caused by the m.13513G>A mutation in the ND5 gene illustrates that hyponatraemia due to renal sodium loss and inappropriate ADH secretion and hypertension can be features of this entity in addition to the previously reported cardiomyopathy and WPW-like conduction pattern and that they present additional challenges in diagnosis and management.

Original languageEnglish
Title of host publicationJIMD Reports
EditorsJohannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
Place of PublicationGermany
PublisherSpringer
Pages95-100
Number of pages6
Volume19
ISBN (Electronic)9783662461907
ISBN (Print)9783662461891
DOIs
Publication statusPublished - 2015
Externally publishedYes

Publication series

NameJIMD Reports
Volume19
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Keywords

  • Arrhythmia
  • Cardiomyopathy
  • Complex i
  • Hypertension
  • Hyponatraemia
  • Leigh syndrome
  • MT-ND5 m.13513g>a

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